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Metadata
ID DOID:0051051
Name congenital disorder of glycosylation type IIw
Definition A congenital disorder of glycosylation type II that is characterized by liver dysfunction, coagulation deficiencies, and profound abnormalities in N-glycosylation of serum specific proteins and that has_material_basis_in heterozygous mutation in the G6PT1 gene (SLC37A4), which encodes glucose-6-phosphate translocase, on chromosome 11q23.
https://pubmed.ncbi.nlm.nih.gov/33964207/
Xrefs

MIM:619525

Parent Relationships

is_a autosomal dominant disease

is_a congenital disorder of glycosylation type II

Subclass Logical Relationships

has material basis in some autosomal dominant inheritance

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